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Cellosaurus MHHi001-A-13 (CVCL_D6KW)

[Text version]
Cell line name MHHi001-A-13
Synonyms Phx_SRCAP_g3_1200_7; UMGWi003-A-13
Accession CVCL_D6KW
Resource Identification Initiative To cite this cell line use: MHHi001-A-13 (RRID:CVCL_D6KW)
Comments From: Department of Functional Genomics - Human Molecular Genetics, University Medicine Greifswald; Greifswald; Germany.
Population: Caucasian.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:16974; SRCAP.
Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
Disease Floating-Harbor syndrome (NCIt: C175241)
Floating-Harbor syndrome (ORDO: Orphanet_2044)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QX51 (MHHi001-A)
Sex of cell Female
Age at sampling <1D
Category Induced pluripotent stem cell
Publications

PubMed=38006676; DOI=10.1016/j.scr.2023.103249
Rhode J., Hagenau L., Beimdiek J., Ullmann R., Hossain M.F., Tzvetkova A., Jensen L.R., Kuss A.W.
Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3'-end of SRCAP using CRISPR/Cas9.
Stem Cell Res. 73:103249-103249(2023)

Cross-references
Cell line databases/resources hPSCreg; MHHi001-A-13
Biological sample resources BioSamples; SAMEA114222273
Encyclopedic resources Wikidata; Q127382827
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3